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| Likely inborn error of metabolism - targeted testing not possible v1.396 | SLC25A4 | Catherine Snow Added comment: Comment on mode of inheritance: The MOI was changed for consistency between panels Mitochondrial DNA maintenance disorder (code: 533) and Possible mitochondrial disorder - nuclear genes (code: 539). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.396 | SLC25A4 | Catherine Snow Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | SLC25A42 |
Sarah Leigh Source Expert Review Green was added to SLC25A42. Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42 Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A4 |
Ivone Leong Source NHS GMS was added to SLC25A4. Source London North GLH was added to SLC25A4. |
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| Likely inborn error of metabolism - targeted testing not possible v1.43 | SLC25A4 | Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A42 |
Ellen McDonagh gene: SLC25A42 was added gene: SLC25A42 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A42 was set to Unknown |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A40 |
Ellen McDonagh gene: SLC25A40 was added gene: SLC25A40 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A40 was set to Unknown |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A4 | Ellen McDonagh Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 for gene: SLC25A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A4 |
Ellen McDonagh gene: SLC25A4 was added gene: SLC25A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46 Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to PMID: 26168012 Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder |
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